Congenital primary megaureter
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Congenital primary megalo-ureter |
| Number of Symptoms | 10 |
| OrphanetNr: | 617 |
| OMIM Id: |
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| ICD-10: |
Q62.2 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Unknown [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic nonsyndromic renal or urinary tract malformation
-Rare genetic disease Nonsyndromic renal or urinary tract malformation -Rare developmental defect during embryogenesis -Rare renal disease Nonsyndromic urogenital tract malformation of male and female -Rare developmental defect during embryogenesis -Rare urogenital disease |
Symptom Information:
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(HPO:0000072) | Hydroureter | Very frequent [Orphanet] | 146 / 7739 | |||
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(HPO:0000036) | Abnormality of the penis | Occasional [Orphanet] | 8 / 7739 | |||
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(HPO:0000787) | Nephrolithiasis | Frequent [Orphanet] | 78 / 7739 | |||
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(HPO:0000010) | Recurrent urinary tract infections | Frequent [Orphanet] | 56 / 7739 | |||
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(HPO:0011037) | Decreased urine output | Occasional [Orphanet] | 47 / 7739 | |||
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(HPO:0000079) | Abnormality of the urinary system | Very frequent [Orphanet] | 88 / 7739 | |||
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(HPO:0000790) | Hematuria | Occasional [Orphanet] | 106 / 7739 | |||
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(HPO:0000076) | Vesicoureteral reflux | Frequent [Orphanet] | 94 / 7739 | |||
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(HPO:0002027) | Abdominal pain | Frequent [Orphanet] | 184 / 7739 | |||
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(HPO:0001945) | Fever | Occasional [Orphanet] | 218 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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